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Pubmed for Handhelds

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Journal Abstract Search

155 related items for PubMed ID: 12828938

  • 21.
    ; . PubMed ID:
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  • 22. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.
    Hara K, Fukushima T, Suzuki T, Shimohata T, Oyake M, Ishiguro H, Hirota K, Miyashita A, Kuwano R, Kurisaki H, Yomono H, Goto J, Kanazawa I, Tsuji S.
    Neurology; 2004 Feb 24; 62(4):648-51. PubMed ID: 14981189
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  • 24. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
    Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C.
    J Neurol; 2003 Jun 24; 250(6):668-71. PubMed ID: 12796826
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  • 25. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
    Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F.
    Arch Neurol; 2004 May 24; 61(5):727-33. PubMed ID: 15148151
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  • 26.
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  • 27. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.
    Burgess DL, Matsuura T, Ashizawa T, Noebels JL.
    Epilepsia; 2000 Jan 24; 41(1):24-7. PubMed ID: 10643919
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  • 28.
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  • 29. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
    McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A, DDD StudyDDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.
    Am J Hum Genet; 2016 May 05; 98(5):981-992. PubMed ID: 27108798
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  • 30. Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.
    Obayashi M, Ishikawa K, Izumi Y, Takahashi M, Niimi Y, Sato N, Onodera O, Kaji R, Nishizawa M, Mizusawa H.
    J Hum Genet; 2012 Mar 05; 57(3):202-6. PubMed ID: 22318346
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  • 31. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
    Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
    J Neurol; 2015 May 05; 262(5):1278-84. PubMed ID: 25794864
    [Abstract] [Full Text] [Related]

  • 32. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
    Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C.
    Am J Hum Genet; 1995 Jun 05; 56(6):1443-9. PubMed ID: 7762567
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  • 33. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
    Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR.
    Clin Chem; 2009 Jul 05; 55(7):1415-8. PubMed ID: 19423733
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  • 34.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Storey E.
    ; 1993 Jul 05. PubMed ID: 20301536
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  • 37.
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  • 38. A new dominantly inherited pure cerebellar ataxia, SCA 30.
    Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ.
    J Neurol Neurosurg Psychiatry; 2009 Apr 05; 80(4):408-11. PubMed ID: 18996908
    [Abstract] [Full Text] [Related]

  • 39. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
    Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD, Genomics England Research ConsortiumDepartment of Health & Social Care, London, UK., Becker EBE, Németh AH.
    Mov Disord; 2024 Jan 05; 39(1):141-151. PubMed ID: 37964426
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  • 40.
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